Incidental Mutation 'R4703:Galnt5'
ID 356184
Institutional Source Beutler Lab
Gene Symbol Galnt5
Ensembl Gene ENSMUSG00000026828
Gene Name polypeptide N-acetylgalactosaminyltransferase 5
Synonyms ppGaNTase-T5
MMRRC Submission 041951-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4703 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 57887832-57931039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57888919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 173 (R173I)
Ref Sequence ENSEMBL: ENSMUSP00000131362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112616] [ENSMUST00000166729]
AlphaFold Q8C102
Predicted Effect possibly damaging
Transcript: ENSMUST00000112616
AA Change: R173I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108235
Gene: ENSMUSG00000026828
AA Change: R173I

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 1.3e-33 PFAM
Pfam:Glyco_transf_7C 653 718 1.9e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144671
Predicted Effect possibly damaging
Transcript: ENSMUST00000166729
AA Change: R173I

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131362
Gene: ENSMUSG00000026828
AA Change: R173I

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
low complexity region 319 330 N/A INTRINSIC
Pfam:Glycos_transf_2 489 672 2.1e-30 PFAM
Pfam:Glyco_transf_7C 652 718 7e-8 PFAM
RICIN 801 925 1.36e-19 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (98/101)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016]
PHENOTYPE: An unpublished knockout mutation is reported to have no overt phenotypic consequences. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik T A 13: 59,837,342 (GRCm39) T248S possibly damaging Het
AA986860 T C 1: 130,671,092 (GRCm39) V438A probably benign Het
Adam25 G T 8: 41,207,163 (GRCm39) C143F probably damaging Het
Aox1 T A 1: 58,398,116 (GRCm39) F1286I possibly damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgap5 C T 12: 52,564,366 (GRCm39) P446S probably damaging Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Armc12 A G 17: 28,751,336 (GRCm39) D110G probably benign Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Aspscr1 A T 11: 120,579,771 (GRCm39) K39N possibly damaging Het
B4galnt1 G T 10: 127,003,394 (GRCm39) V172F possibly damaging Het
B4galt1 A G 4: 40,823,569 (GRCm39) V174A probably benign Het
Bcl11a C A 11: 24,113,725 (GRCm39) A356E possibly damaging Het
Bri3bp C T 5: 125,528,830 (GRCm39) L110F probably damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Ccdc33 T A 9: 57,940,953 (GRCm39) I430F possibly damaging Het
Cgn A G 3: 94,683,405 (GRCm39) probably benign Het
Crbn T A 6: 106,759,883 (GRCm39) I317F possibly damaging Het
Cyp2d22 A C 15: 82,260,118 (GRCm39) L22R probably damaging Het
Dnah7a C T 1: 53,486,476 (GRCm39) probably null Het
Dnajc12 A G 10: 63,222,429 (GRCm39) probably null Het
Dntt T A 19: 41,028,242 (GRCm39) D179E probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Epn1 T A 7: 5,098,147 (GRCm39) D319E probably damaging Het
Evpl C G 11: 116,113,331 (GRCm39) R1453P probably damaging Het
Focad T A 4: 88,260,558 (GRCm39) probably null Het
Foxp2 A T 6: 15,411,247 (GRCm39) M542L probably benign Het
Gak T A 5: 108,717,743 (GRCm39) Q1299L probably damaging Het
Gli1 G T 10: 127,166,724 (GRCm39) P843Q possibly damaging Het
Gm5422 G T 10: 31,125,608 (GRCm39) noncoding transcript Het
Gna14 T G 19: 16,576,344 (GRCm39) V117G possibly damaging Het
Gpr6 T C 10: 40,947,037 (GRCm39) T182A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ifih1 A T 2: 62,429,220 (GRCm39) L906H probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Ighd A G 12: 113,379,661 (GRCm39) probably benign Het
Ighv11-1 A C 12: 113,945,622 (GRCm39) I77R possibly damaging Het
Il22 A T 10: 118,041,511 (GRCm39) I75F probably damaging Het
Il23r A T 6: 67,467,686 (GRCm39) I27K probably damaging Het
Inpp5a A C 7: 139,138,839 (GRCm39) N261T probably damaging Het
Ints8 T G 4: 11,223,785 (GRCm39) Q686P possibly damaging Het
Iqcf4 T C 9: 106,445,519 (GRCm39) probably null Het
Irf2bp1 C T 7: 18,739,496 (GRCm39) R379C possibly damaging Het
Iws1 C T 18: 32,213,066 (GRCm39) P165S probably benign Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kcna10 A T 3: 107,101,926 (GRCm39) I186F probably benign Het
Limk2 C A 11: 3,297,586 (GRCm39) E329* probably null Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Notch1 T G 2: 26,361,170 (GRCm39) K1107Q probably benign Het
Nsd1 T A 13: 55,361,876 (GRCm39) D281E probably damaging Het
Obi1 A G 14: 104,743,644 (GRCm39) L145P probably benign Het
Olfml2a T A 2: 38,841,250 (GRCm39) L262Q probably damaging Het
Or1ab2 T A 8: 72,864,044 (GRCm39) F211L probably damaging Het
Or4k44 T A 2: 111,368,113 (GRCm39) I174L probably benign Het
Or51d1 A T 7: 102,347,477 (GRCm39) T11S probably benign Het
Or6k6 A G 1: 173,944,964 (GRCm39) I206T possibly damaging Het
Or7c19 A G 8: 85,957,237 (GRCm39) T38A possibly damaging Het
Otogl A C 10: 107,657,785 (GRCm39) D1048E probably damaging Het
Oxnad1 T C 14: 31,817,427 (GRCm39) W96R probably damaging Het
Pcdh15 A T 10: 74,285,995 (GRCm39) D743V probably damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcnx1 C T 12: 81,941,938 (GRCm39) T112I probably benign Het
Pctp T C 11: 89,878,099 (GRCm39) E145G possibly damaging Het
Pip5k1b T C 19: 24,332,517 (GRCm39) K389R probably damaging Het
Pla2g15 T A 8: 106,889,691 (GRCm39) M321K probably benign Het
Pnlip T A 19: 58,664,899 (GRCm39) D242E probably damaging Het
Ptpn21 T C 12: 98,645,651 (GRCm39) T1096A probably benign Het
Rims3 A T 4: 120,740,494 (GRCm39) probably benign Het
Scfd2 T A 5: 74,680,256 (GRCm39) Q299L probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Slc15a5 T C 6: 138,032,643 (GRCm39) D237G probably benign Het
Slc16a12 T A 19: 34,652,291 (GRCm39) H285L possibly damaging Het
Sox2 C A 3: 34,704,862 (GRCm39) R100S probably damaging Het
Sspo G A 6: 48,477,387 (GRCm39) C4969Y probably damaging Het
Stxbp2 A G 8: 3,682,521 (GRCm39) S37G probably damaging Het
Tbxas1 T C 6: 39,060,791 (GRCm39) probably null Het
Tcf4 A G 18: 69,790,981 (GRCm39) Y307C probably damaging Het
Thsd7b A T 1: 129,977,646 (GRCm39) probably benign Het
Tnn G T 1: 159,943,815 (GRCm39) D999E possibly damaging Het
Trmt13 C A 3: 116,388,247 (GRCm39) W63L probably benign Het
Tsc2 T C 17: 24,823,883 (GRCm39) N915S probably benign Het
Tyrp1 T A 4: 80,759,043 (GRCm39) probably null Het
Uvrag A T 7: 98,638,794 (GRCm39) I315N probably damaging Het
Vmn1r31 C A 6: 58,448,953 (GRCm39) *304L probably null Het
Vmn2r59 T A 7: 41,661,686 (GRCm39) I710L probably benign Het
Vmn2r82 A T 10: 79,214,641 (GRCm39) H208L probably damaging Het
Wtap T C 17: 13,199,711 (GRCm39) T91A probably benign Het
Xirp1 A T 9: 119,846,093 (GRCm39) V930E probably damaging Het
Xpo4 T G 14: 57,827,565 (GRCm39) H877P probably benign Het
Other mutations in Galnt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Galnt5 APN 2 57,888,985 (GRCm39) missense probably benign
IGL00515:Galnt5 APN 2 57,889,080 (GRCm39) missense probably benign 0.02
IGL00950:Galnt5 APN 2 57,889,144 (GRCm39) missense probably benign 0.00
IGL00973:Galnt5 APN 2 57,888,951 (GRCm39) missense probably benign 0.02
IGL01152:Galnt5 APN 2 57,915,405 (GRCm39) missense probably benign 0.17
IGL01305:Galnt5 APN 2 57,915,354 (GRCm39) nonsense probably null
IGL01661:Galnt5 APN 2 57,889,494 (GRCm39) missense probably benign 0.03
IGL01719:Galnt5 APN 2 57,888,555 (GRCm39) missense probably damaging 1.00
IGL02165:Galnt5 APN 2 57,888,877 (GRCm39) missense probably benign
IGL02795:Galnt5 APN 2 57,917,883 (GRCm39) missense probably damaging 1.00
IGL02943:Galnt5 APN 2 57,889,780 (GRCm39) missense probably damaging 1.00
IGL03218:Galnt5 APN 2 57,889,401 (GRCm39) missense possibly damaging 0.59
ANU22:Galnt5 UTSW 2 57,915,354 (GRCm39) nonsense probably null
R0082:Galnt5 UTSW 2 57,889,047 (GRCm39) missense possibly damaging 0.92
R0113:Galnt5 UTSW 2 57,888,889 (GRCm39) missense probably benign
R0445:Galnt5 UTSW 2 57,888,962 (GRCm39) missense probably benign
R0517:Galnt5 UTSW 2 57,925,385 (GRCm39) splice site probably benign
R0609:Galnt5 UTSW 2 57,914,637 (GRCm39) missense possibly damaging 0.90
R0639:Galnt5 UTSW 2 57,889,407 (GRCm39) missense probably benign 0.07
R0646:Galnt5 UTSW 2 57,889,097 (GRCm39) missense probably benign 0.00
R0677:Galnt5 UTSW 2 57,888,992 (GRCm39) nonsense probably null
R1808:Galnt5 UTSW 2 57,916,137 (GRCm39) missense probably benign 0.24
R1927:Galnt5 UTSW 2 57,888,615 (GRCm39) missense probably benign 0.00
R1980:Galnt5 UTSW 2 57,914,735 (GRCm39) critical splice donor site probably null
R2517:Galnt5 UTSW 2 57,889,425 (GRCm39) missense probably benign 0.00
R4044:Galnt5 UTSW 2 57,888,472 (GRCm39) missense probably damaging 1.00
R4154:Galnt5 UTSW 2 57,888,505 (GRCm39) missense probably damaging 1.00
R4411:Galnt5 UTSW 2 57,889,207 (GRCm39) missense probably benign 0.01
R4767:Galnt5 UTSW 2 57,918,156 (GRCm39) missense possibly damaging 0.91
R5118:Galnt5 UTSW 2 57,905,015 (GRCm39) missense probably damaging 1.00
R5497:Galnt5 UTSW 2 57,915,340 (GRCm39) missense probably damaging 0.99
R5506:Galnt5 UTSW 2 57,889,637 (GRCm39) missense probably benign
R5548:Galnt5 UTSW 2 57,904,922 (GRCm39) missense probably damaging 0.99
R5758:Galnt5 UTSW 2 57,888,442 (GRCm39) missense probably benign 0.19
R5937:Galnt5 UTSW 2 57,928,949 (GRCm39) missense probably benign 0.00
R6237:Galnt5 UTSW 2 57,925,261 (GRCm39) missense probably damaging 0.96
R6805:Galnt5 UTSW 2 57,925,311 (GRCm39) missense possibly damaging 0.82
R6959:Galnt5 UTSW 2 57,889,231 (GRCm39) missense probably benign 0.39
R7070:Galnt5 UTSW 2 57,888,621 (GRCm39) missense probably benign 0.00
R7179:Galnt5 UTSW 2 57,888,621 (GRCm39) missense probably benign 0.06
R7347:Galnt5 UTSW 2 57,907,205 (GRCm39) missense probably benign 0.33
R7419:Galnt5 UTSW 2 57,904,937 (GRCm39) missense probably damaging 1.00
R7426:Galnt5 UTSW 2 57,907,151 (GRCm39) missense probably damaging 0.99
R7492:Galnt5 UTSW 2 57,916,048 (GRCm39) splice site probably null
R7539:Galnt5 UTSW 2 57,925,242 (GRCm39) missense probably damaging 0.99
R7623:Galnt5 UTSW 2 57,907,222 (GRCm39) missense probably damaging 0.99
R8135:Galnt5 UTSW 2 57,904,880 (GRCm39) missense probably damaging 1.00
R8155:Galnt5 UTSW 2 57,889,427 (GRCm39) missense probably benign 0.01
R8544:Galnt5 UTSW 2 57,907,160 (GRCm39) missense probably damaging 1.00
R9267:Galnt5 UTSW 2 57,925,220 (GRCm39) missense possibly damaging 0.58
R9747:Galnt5 UTSW 2 57,889,477 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- GAAAATGCAGAACCTCCTGGG -3'
(R):5'- CCTCAGATTTCAGGATTGGTGG -3'

Sequencing Primer
(F):5'- TCCTGGGAAGGAGAAAGGCTG -3'
(R):5'- GCAAAGTGCATCCTCAATTTTG -3'
Posted On 2015-10-21